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1.
Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.
Am J Med Genet A
; 191(10): 2493-2507, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37282829
2.
Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.
Cleft Palate Craniofac J
; 58(1): 78-83, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32613853
3.
Three-dimensional comparison of mandibular morphology in young people with Treacher Collins syndrome and Pierre Robin sequence.
Am J Orthod Dentofacial Orthop
; 160(6): 835-843, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34657764
4.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
Am J Hum Genet
; 96(4): 519-31, 2015 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-25772936
5.
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.
Am J Med Genet A
; 161A(8): 2088-94, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23840040
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